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. 2012:2012:878107.
doi: 10.1155/2012/878107. Epub 2012 Oct 3.

Dermal ultrastructure in low Beighton score members of 17 families with hypermobile-type Ehlers-Danlos syndrome

Trinh Hermanns-Lê  1 , Marie-Annick Reginster, Claudine Piérard-Franchimont, Philippe Delvenne, Gérald E Piérard, Daniel Manicourt
Affiliations

Dermal ultrastructure in low Beighton score members of 17 families with hypermobile-type Ehlers-Danlos syndrome

Trinh Hermanns-Lê et al. J Biomed Biotechnol. 2012.

Abstract

The distinction between the Ehlers-Danlos syndrome hypermobile type (EDSH) and the benign joint hypermobility syndrome (BJHS) is unclear. The aim of the present study was to compare skin ultrastructural abnormalities of EDSH and BJHS among different families. Skin of 23 EDSH, 27 BJHS, and 41 asymptomatic subjects from 17 families was examined using transmission electron microscopy. Similar ultrastructural abnormalities were found irrespective of the Beighton score. Flower-like collagen fibrils represented the key change and elastic fibers were altered as well. Beighton score is a clinical parameter rating joint mobility that appeared unrelated to quantitative and qualitative collagen ultrastructural alterations in the skin. Some EDSH family members fit with BJHS diagnosis. BJHS possibly represents a mild variant of EDSH.

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Figures

Figure 1
Figure 1
Flower-like collagen fibrils (▸) and irregular interfibrillar spaces.
Figure 2
Figure 2
Calcified microcyst in an elastic fiber.
Figure 3
Figure 3
Globules of presumably hyaluronic acid and granulofilamentous meshwork inside the collagen bundles.
See this image and copyright information in PMC

References

    1. Beighton P, de Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndrome: revised nosology, Villefranche, 1997. American Journal of Medical Genetics. 77(1):31–37. - PubMed
    1. Henry F, Goffin V, Piérard-Franchimont C, Piérard GE. Mechanical properties of skin in Ehlers-Danlos syndrome, types I, II, and III. Pediatric Dermatology. 1996;13(6):464–467. - PubMed
    1. Seçkin U, Tur BS, Yilmaz O, Yağci I, Bodur H, Arasil T. The prevalence of joint hypermobility among high school students. Rheumatology International. 2005;25(4):260–263. - PubMed
    1. Everman DB, Robin NH. Hypermobility syndrome. Pediatrics in Review. 1998;19(4):111–117. - PubMed
    1. Simpson MR. Benign joint hypermobility syndrome: evaluation, diagnosis, and management. Journal of the American Osteopathic Association. 2006;106(9):531–536. - PubMed

Publication types

Supplementary concepts